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Opinions of adults affected with later‐onset lysosomal storage diseases regarding newborn screening: A qualitative study.
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- Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1544, doi. 10.1002/jgc4.1421
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- Article
The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene.
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- Journal of Genetic Counseling, 2018, v. 27, n. 1, p. 217, doi. 10.1007/s10897-017-0139-y
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- Article
Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers.
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- Journal of Genetic Counseling, 2016, v. 25, n. 2, p. 373, doi. 10.1007/s10897-015-9879-8
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- Article
Genomic analysis of partial 21q monosomies with variable phenotypes.
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- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 235, doi. 10.1038/ejhg.2010.150
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- Article
Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia specialty clinic and review of the literature.
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- Developmental Medicine & Child Neurology, 2011, v. 53, n. 7, p. 586, doi. 10.1111/j.1469-8749.2011.03918.x
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- Article